A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303886



Internal ID14804148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43873776..43873777hg38UCSC Ensembl
Innerchr19:43873745..43873808hg38UCSC Ensembl
Outerchr19:43873744..43873809hg38UCSC Ensembl
chr19:44377928..44377929hg19UCSC Ensembl
Innerchr19:44377897..44377960hg19UCSC Ensembl
Outerchr19:44377896..44377961hg19UCSC Ensembl
chr19:49069768..49069769hg18UCSC Ensembl
Innerchr19:49069800..49069737hg18UCSC Ensembl
Outerchr19:49069736..49069801hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381583
hg191583
hg181583
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7753300, essv7750658, essv7755357, essv7758618, essv7743815, essv7753940, essv7741189, essv7747853, essv7747090, essv7745429, essv7756195, essv7744497, essv7760106
SamplesNA18870, NA18498, NA19114, NA18853, NA19099, NA19257, NA19225, NA18909, NA19108, NA19147, NA18517, NA18501, NA18511
Known GenesZNF404
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303886
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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